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CompletedNCT03427593DICEPUpdated Jan 8, 2026

Severe PID With Lymphoproliferation and Neutropenia

An interventional study of FACS analyses and Target Sequencing by NGS ( Next-generation sequencing) in Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID), sponsored by University Hospital, Strasbourg, France. Completed at 1 site in France. Open to participants aged 18 Years and older, including healthy volunteers. Per ClinicalTrials.gov, last updated 2026-01-08.

Sponsored by University Hospital, Strasbourg, France · Not applicable, Interventional, and Basic science

Phase
Not applicable
Study type
Interventional
Enrollment
27
Allocation
Non-randomized
Ages
18 Years and older
Sex
All
01

Study summary

The purpose of this study is to analyse the phenotype in a sub-population of adults with severe primary immunodeficiency with lymphoproliferation and neutropenia and to decipher the possible pathways involved, especially under the hypothesis of a CTLA4/LRBA schema

02

Conditions studied

  • Primary Immune-Deficiency (PID) Common Variable Immune Deficiency (CVID)

Keywords

  • CVID
  • Neutropenia
  • Autoimmunity
  • Lymphoproliferation
03

Who can participate

Ages eligible
18 Years and older
Sexes eligible
All
Accepts healthy volunteers
Yes

Inclusion criteria

  • >18 years old
  • CVID (Common Variable Immunodeficiency)
  • Neutropenia
  • Lymphoproliferation

Exclusion criteria

Exclusion Criteria :

- Secondary immunodeficiency

04

Study design

Phase
Not applicable
Primary purpose
Basic science
Allocation
Non-randomized
Intervention model
Parallel assignment
Masking
None (open label)
Enrollment
27 participants (actual)

Study arms

  • Experimental
    Patients

    Patients with the phenotype (PID and Neutropenia and lymphoproliferation)

    Genetic: FACS analyses · Genetic: Target Sequencing by NGS ( Next-generation sequencing) · Genetic: Whole Exome Sequencing

  • Other
    relatives (parents)

    Genetic: FACS analyses · Genetic: Target Sequencing by NGS ( Next-generation sequencing) · Genetic: Whole Exome Sequencing

  • Sham comparator
    Controls

    Genetic: FACS analyses

Interventions

  • GeneticFACS analyses

    FACS analyses

  • GeneticTarget Sequencing by NGS ( Next-generation sequencing)

    Target Sequencing by NGS ( Next-generation sequencing)

  • GeneticWhole Exome Sequencing

    Whole Exome Sequencing

05

What researchers measure

Primary outcomes

  1. Identification of known mutations by target sequencing of all known genes involved in CVID phenotypes.

    Target-NGS

    Time frame: Day 0 (inclusion)

  2. Identification of new mutations in new genes in CVID by WES (whole exome sequencing) strategy.

    WES (Whole exome sequencing), If no known mutations is founded by T-NGS

    Time frame: Day 0 (inclusion)

  3. Validation or not of a pathological pathway involving CTLA4/LRBA or a related pathway in T-cells. Validation by the mean of functional analysis of T-cells in vitro of CTLA4 expression and response to stimulation. RNA-sequencing in sorted cells.

    Time frame: Day 0 (inclusion)

Secondary outcomes

  1. Deciphering of new possible genes involved in the phenotype : Patient without known mutation in genes involved in PID will benefit of an extended analyse of the WES to find a possible condidate genes

    After WES analyses

    Time frame: Day 0 (inclusion)

06

Study locations

1 site
  • Service d'Immunologie Clinique et VIH - Hôpital Civil
    Strasbourg, 67091, France
07

References and documents

Publications

  • Guffroy A, Mourot-Cottet R, Gerard L, Gies V, Lagresle C, Pouliet A, Nitschke P, Hanein S, Bienvenu B, Chanet V, Donadieu J, Gardembas M, Karmochkine M, Nove-Josserand R, Martin T, Poindron V, Soulas-Sprauel P, Rieux-Laucat F, Fieschi C, Oksenhendler E, Andre-Schmutz I, Korganow AS; DEFI study group. Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event Associated with Severe Outcome. J Clin Immunol. 2017 Oct;37(7):715-726. doi: 10.1007/s10875-017-0434-2. Epub 2017 Aug 26. PubMed 28842786 ↗
08

Registry details

Key details

Study ID
NCT03427593
Lead sponsor
University Hospital, Strasbourg, France
Responsible party
Sponsor
First posted
Feb 9, 2018
Start date
Mar 13, 2018
Primary completion
Mar 13, 2018
Completion
Dec 5, 2019
Last update
Jan 8, 2026

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
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